Linked Data
ClinVar Variation Id:
25283
ClinVar RCV Id:
RCV000022226
dbSNP Id:
rs111033781
PubMed:
PMID:10408771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649058T>A , CM000671.2:g.34649058T>A | GRCh38 |
| NC_000009.11:g.34649055T>A , CM000671.1:g.34649055T>A | GRCh37 |
| NC_000009.10:g.34639055T>A | NCBI36 |
| NG_009029.1:g.7421T>A | |
| NG_028966.1:g.1874T>A | |
| NG_009029.2:g.7470T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*469T>A | ENSP00000509954.1:n.*469T>A | |
| ENST00000378842.8:c.881T>A MANE Select | ENSP00000368119.4:p.Phe294Tyr | |
| ENST00000378842.7:c.881T>A | ENSP00000368119.3:p.Phe294Tyr | |
| ENST00000450095.6:c.554T>A | ENSP00000401956.2:p.Phe185Tyr | |
| ENST00000488412.2:n.137T>A | ||
| ENST00000489643.6:n.961T>A | ||
| ENST00000554550.5:c.*501T>A | ENSP00000451435.1:n.*501T>A | |
| ENST00000554638.5:n.1353T>A | ||
| ENST00000555020.5:n.1342T>A | ||
| ENST00000555086.5:n.988T>A | ||
| ENST00000555754.1:n.329T>A | ||
| ENST00000556278.1:c.432+602T>A | ENSP00000451792.1:n.432+602T>A | |
| ENST00000557706.5:n.1456T>A | ||
| NM_000155.3:c.881T>A | NP_000146.2:p.Phe294Tyr | |
| NM_001258332.1:c.554T>A | NP_001245261.1:p.Phe185Tyr | |
| NM_000155.4:c.881T>A MANE Select | NP_000146.2:p.Phe294Tyr | |
| NM_001258332.2:c.554T>A | NP_001245261.1:p.Phe185Tyr |